ELP2

elongator acetyltransferase complex subunit 2
OMIM: 616054, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ELP2 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.389

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder MIM#617270

Green ELP2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • intellectual disability, autosomal recessive 58 MONDO:0014996

Green ELP2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • intellectual disability, autosomal recessive 58 MONDO:0014996

Green ELP2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 58, 617270 (3)

Green ELP2 in Prepair 1000+


Level 2: Screening
Version 1.1586

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 58, MIM# 617270